Critical Critical Congenital Heart Disease Research Articles

Perioperative neonatal brain injury is associated with worse school‐age neurodevelopment in children with critical congenital heart disease

To assess the impact of perioperative neonatal brain injury and brain volumes on neurodevelopment throughout school-age children with critical congenital heart disease (CHD). Thirty-four survivors of neonatal cardiac surgery (seven females, 27 males) were included. Neonatal preoperative and postoperative cerebral magnetic resonance imaging was performed and neurodevelopment was assessed at 24months (SD 0.7, n=32, using Bayley Score of Infant and Toddler Development, Child Behavior Checklist) and 6years (mean age 5y 11mo; SD 0.3, n=30, using Movement Assessment Battery for Children, Wechsler Preschool and Primary Scale of Intelligence, Child Behavior Checklist, Teacher Report Form). Brain injury, brain volumes, and cortical measures were related to outcome with adjustment for maternal educational level. Two-year cognitive score and 6-year Full-scale IQ were poorer in children with neonatal white matter injury (n=21, all p<0.05), with higher teacher-reported attention problems (p=0.03). Five of six children with involvement of the posterior limb of the internal capsule showed motor problems (p=0.03). Children with a below-average Fulll-scale IQ (<85, n=9) showed smaller volumes of basal ganglia thalami (-8%, p=0.03) and brain stem (-7%, p=0.03). Our findings provide evidence of unfavourable outcome in school-age children with critical CHD who acquire perioperative neonatal brain injury. This paper extends knowledge about neonatal brain injury and long-term outcome in congenital heart disease. Children with white matter injury show lower IQ and more attention problems at school age. Injury of the posterior limb of the internal capsule increases the risk of motor problems. This study provides evidence for worse outcomes in neonates acquiring brain injury around cardiac surgery.

Congenital heart disease detection in Slovenia: Improvement potential of neonatal pulse oximetry screening

Introduction: Patients with major or critical congenital heart disease (CHD) require surgical treatment or interventional cardiac catheterization during the first year or 28 days of life, respectively. Currently, the detection of CHD in Slovenia relies on the prenatal ultrasound screening and physical examination of the newborn.Aims: 1) To determine the incidence of major/critical CHD in Slovenia; 2) to determine the proportion of infants with late detection of major/critical CHD based on the existing clinical practice; and 3) to estimate the improvement in CHD detection with a nation-wide neonatal pulse oximetry screening programme.Methods: We reviewed the documentation of all patients with major/critical CHD born in Slovenia in years 2007–2012. We determined whether the heart condition was detected: 1) on time – prenatally or prior to discharge from maternity ward; or 2) late – after discharge or at autopsy.Results: Among 128,839 live-born babies, 293 were diagnosed with a major CHD (2.27/1000 live births, 95 % confidence interval (CI): 2.0–2.5/1000) and of those 150 with a critical CHD (1.16/1000 live births, 95 % CI: 1.0–1.4/1000). Late detection occurred in 17.7 % of patients with major and 10.9 % patients with critical CHD. Out of 15 late-detected patients with critical CHD, 14 had an obstructive left heart lesion. In 2 patients CHD was diagnosed after death.Conclusions: Detection of CHD in Slovenia is satisfactory. However, in the observed period, 10.9 % of newborns with a critical CHD were discharged undiagnosed. A nation-wide pulse oximetry screening programme could improve pre-discharge CHD detection.

Genetic Testing Protocol Reduces Costs and Increases Rate of Genetic Diagnosis in Infants with Congenital Heart Disease

Genetic testing is routinely performed on infants with critical congenital heart disease (CHD). This project reviewed the effect of implementing a genetic testing protocol in this population. Charts of infants with critical CHD were reviewed for genetic testing and results across two time periods: the time before implementation of a genetic testing protocol (pre-protocol) and the time after implementation (post-protocol). The use of karyotype, 22q11.2 Deletion testing, and chromosomal microarray were compared across these two time periods. Records of 891 infants were reviewed. 562 (63%) had at least one of the target genetic tests completed. During the pre-protocol time period, 66% of patients who had genetic testing underwent multiple tests versus 24% during the post-protocol time period (p < 0.01). The rate of patients who underwent genetic testing increased from 60% in the pre-protocol time period to 77% in the post-protocol time period (p < 0.01). The rate of diagnosis of genetic conditions during the pre-protocol period was 26% versus 36% during the post-protocol period (p = 0.01). There was a reduction in cost to patients by $5105.59 per diagnosis during the post-protocol period. Patients with critical CHD in the post-protocol period were less likely to undergo multiple genetic tests and more likely to have a diagnosis of genetic disease. In addition there was a significant reduction in cost per diagnosis during the post-protocol time period. Genetic testing protocols for infants with critical CHD promoted more efficient use of genetic testing and increased the rate of diagnosis of genetic conditions in this population.

Learning and Memory in Adolescents With Critical Biventricular Congenital Heart Disease.

Although evidence exists of broadly defined memory impairment among adolescents with critical congenital heart disease (CHD), nuanced investigations of declarative memory in this at-risk population have not been conducted. This study had two primary aims: (1) to conduct a fine-grained analysis of a range of relevant learning and memory processes in adolescents with critical biventricular CHD, and (2) to identify risk, odds, and predictors of memory impairment. Data were combined from two single-center studies of neurodevelopmental outcomes in critical CHD. Two-hundred seven adolescents (M age =15.61±1.0 years) with critical CHD (139 with dextro-transposition of the great arteries and 68 with tetralogy of Fallot without an identified genetic condition), as well as 61 healthy referents (M age =15.27±1.1 years) completed a neuropsychological evaluation which included the Children's Memory Scale. Whereas visual-spatial memory deficits were found in both CHD subgroups, verbal memory abilities were relatively preserved. Adolescents with CHD demonstrated stronger memory for Stories than Word Pairs, t (203)=2.63, p=.009, and for Dot Locations than Faces, t(204)=-2.57, p=.01. CHD subgroup, socioeconomic status, sex, and seizure history were among the most frequent significant predictors of memory impairment. Seizure history, in particular, was associated with a 2 to 3 times greater odds of impaired performance on learning and memory tasks. Adolescents with critical biventricular CHD are at risk for deficits in aspects of declarative memory. Independent risk factors for worse outcome include history of seizures. (JINS, 2017, 23, 627-639).

Pulse oximetry could significantly enhance the early detection of critical congenital heart disease in neonatal intensive care units

AimLimited data have been available regarding critical congenital heart disease (CHD) screening in neonatal intensive care unit (NICUs). This study evaluated the feasibility of screening for CHD by adding pulse oximetry (POX) to clinical evaluation in a NICU in Shanghai, China.MethodsWe screened 4128 eligible consecutive NICU admissions using POX plus clinical evaluation. Infants with positive screening results were then evaluated with echocardiography. Those with negative screening results were put under observation, and they also underwent echocardiography if their oxygen saturation fell below 95% on room air during hospitalisation.ResultsThis enhanced procedure detected 19 critical CHD cases, and seven of these diagnoses would have been delayed if POX had not been incorporated into the screening strategy. This means that the addition of POX increased the detection rate of critical CHD from 63.2 to 100%. The false‐positive rate of critical CHD screening using POX plus clinical evaluation was higher in NICU patients with high morbidity rates.ConclusionWhen pulse oximetry screening was added to clinical evaluation, it increased the number of critical CHD cases that were detected in our NICU. This method could provide a useful screening protocol for critical CHD cases.

Association of Prenatal Diagnosis of Critical Congenital Heart Disease With Postnatal Brain Development and the Risk of Brain Injury.

The relationship of prenatal diagnosis of critical congenital heart disease (CHD) with brain injury and brain development is unknown. Given limited improvement of CHD outcomes with prenatal diagnosis, the effect of prenatal diagnosis on brain health may reveal additional benefits. To compare the prevalence of preoperative and postoperative brain injury and the trajectory of brain development in neonates with prenatal vs postnatal diagnosis of CHD. Cohort study of term newborns with critical CHD recruited consecutively from 2001 to 2013 at the University of California, San Francisco and the University of British Columbia. Term newborns with critical CHD were studied with brain magnetic resonance imaging preoperatively and postoperatively to determine brain injury severity and microstructural brain development with diffusion tensor imaging by measuring fractional anisotropy and the apparent diffusion coefficient. Comparisons of magnetic resonance imaging findings and clinical variables were made between prenatal and postnatal diagnosis of critical CHD. A total of 153 patients with transposition of the great arteries and single ventricle physiology were included in this analysis. The presence of brain injury on the preoperative brain magnetic resonance imaging and the trajectory of postnatal brain microstructural development. Among 153 patients (67% male), 96 had transposition of the great arteries and 57 had single ventricle physiology. The presence of brain injury was significantly higher in patients with postnatal diagnosis of critical CHD (41 of 86 [48%]) than in those with prenatal diagnosis (16 of 67 [24%]) (P = .003). Patients with prenatal diagnosis demonstrated faster brain development in white matter fractional anisotropy (rate of increase, 2.2%; 95% CI, 0.1%-4.2%; P = .04) and gray matter apparent diffusion coefficient (rate of decrease, 0.6%; 95% CI, 0.1%-1.2%; P = .02). Patients with prenatal diagnosis had lower birth weight (mean, 3184.5 g; 95% CI, 3050.3-3318.6) than those with postnatal diagnosis (mean, 3397.6 g; 95% CI, 3277.6-3517.6) (P = .02). Those with prenatal diagnosis had an earlier estimated gestational age at delivery (mean, 38.6 weeks; 95% CI, 38.2-38.9) than those with postnatal diagnosis (mean, 39.1 weeks; 95% CI, 38.8-39.5) (P = .03). Newborns with prenatal diagnosis of single ventricle physiology and transposition of the great arteries demonstrate less preoperative brain injury and more robust microstructural brain development than those with postnatal diagnosis. These results are likely secondary to improved cardiovascular stability. The impact of these findings on neurodevelopmental outcomes warrants further study.

Abstract 19890: Pre-operative Cerebral Hemodynamics From Birth Until Surgery in Neonates With Critical Congenital Heart Disease

Introduction: Neonates with critical congenital heart disease (CHD) exhibit a high prevalence of white matter injury (WMI). Recent work in neonates with hypoplastic left heart syndrome has shown that a longer wait from birth to surgery was associated with lower cerebral tissue oxygen saturations (StO2) on the morning of surgery and an increased risk for postoperative white matter injury (WMI). Understanding the daily preoperative changes in cerebral physiology during this vulnerable period may lead to new therapeutic algorithms aimed at prevention of WMI. Methods: Term neonates with critical CHD were recruited for this study. Frequency domain diffuse optical spectroscopy was employed to noninvasively quantify StO2. Daily StO2 measurements were made from day of recruitment until the day of surgery. Results: We studied 37 neonates with critical CHD. Operations were performed at 1-8 days of life. Non-elective reasons for timing of surgery resulted only in earlier surgery in this cohort. The subjects were placed in 2 groups depending on if they had a normal arch (N=20) or obstructed arch (N=17). In a linear mixed-effects model, StO2 decreased as a function of time from birth but was not specific to diagnostic group. Conclusions: Observed longitudinal daily decline in StO2 from birth until surgery supports our earlier findings and extends them to other groups of CHD. These results suggest that reported increases in risk for WMI with time-to-surgery could be due to mismatched oxygen delivery to metabolic demand. Therapeutic interventions such as increasing cerebral blood flow or decreasing cerebral oxygen demand may be considered when earlier surgery is not possible.

Timing of diagnosis affects mortality in critical congenital heart disease

ObjectiveScreening for critical congenital heart disease (CHD) with prenatal ultrasound or postnatal pulse oximetry has the potential to improve outcome. To guide screening recommendations, this study aimed to identify the...

Critical Congenital Heart Diseases in Preterm Neonates: Is Early Cardiac Surgery Quite Reasonable?

Prematurity is a recognized risk factor for morbidity and mortality following cardiac surgery. Postoperative and long-term outcomes after cardiac surgery performed in the preterm period are poorly described. The aim of this study was to analyze a population of preterm neonates operated on for critical congenital heart disease (CHD) before 37 weeks of gestational age (wGA) with special attention given to early and late mortality and morbidity. Between 2000 and 2013, 28 preterm neonates (median gestational age (GA) 34.3 weeks) underwent cardiopulmonary bypass (CPB) surgery for critical CHD before 37 wGA; records were retrospectively reviewed. All patients except three with single ventricle physiology had a single-stage anatomic repair. Overall mortality was 43 % (95 % CI 25-62). Risk factors for death were birth weight (p = 0.032) and weight at surgery (p = 0.037), independently of GA, preoperative status, CPB and aortic clamp time. Seven patients, including those with univentricular hearts, died during the postoperative period, and five in the first year after surgery. Median follow-up was 5.9 years (range 1 month-12.8 years). Kaplan-Meier survival rate was 75 % (95 % CI 59-91) at 1 month, and 57 % (95 % CI 39-75) at 1 and 5 years. Eight patients required reoperations after a delay of 2.8 ± 1.3 months; eight had bronchopulmonary dysplasia. At the end of follow-up, nine patients were asymptomatic. One-stage biventricular repair for critical CHD on preterm neonates was feasible. Mortality remained high but acceptable, mainly confined to the first postoperative year and related to small weight. Despite reoperations, long-term clinical status was good in most survivors. Further long-term prospective investigations are necessary to evaluate neurodevelopmental outcomes.

Early versus delayed surgical correction of malrotation in children with critical congenital heart disease

PurposeThe purpose of this study was to compare outcomes between early and delayed surgical correction of malrotation in children with critical congenital heart disease (CHD). MethodsPatients with CHD who underwent cardiac surgery by 1 year of age and had malrotation diagnosed during their initial admission at 34 hospitals contributing to the Pediatric Health Information System in 2004–2009 were included. Ladd’s procedures performed during the first admission were considered early correction, and those at a subsequent admission were considered delayed. Interhospital variability in the proportion of patients undergoing delayed correction was assessed, and outcomes were compared between the groups. ResultsOf the 324 patients identified, 85.2% underwent early correction. Significant variability existed in the proportion of patients undergoing delayed correction across hospitals (p<0.0001). Baseline characteristics, including severity of CHD, were similar between the groups. In the delayed group, 27% of patients underwent a Ladd’s procedure during an urgent or emergent admission, but none had volvulus or underwent intestinal resection. Rates of mortality and readmission within 1 year of malrotation diagnosis were similar in both groups. Chart validation confirmed 100% accuracy of diagnosis and treatment group assignment. ConclusionsIn patients with critical CHD, delayed operative intervention for malrotation without volvulus may be a reasonable alternative.

Outcomes of critical congenital heart disease requiring emergent neonatal cardiac intervention.

The aim of this study was to evaluate outcomes for neonates with critical congenital heart disease (CHD) requiring emergent neonatal cardiac intervention (ENCI). Neonates < 30 days of age that underwent ENCI at <48 h of age were retrospectively enrolled over a 2-year period. Forty-seven neonates met inclusion criteria for ENCI comprising nine cardiac defects that underwent 25 catheterizations and 22 cardiothoracic surgeries. The main groups were d-transposition of the great arteries (DTGA) and total anomalous pulmonary venous return (TAPVR). Prenatal detection was 38% overall: higher for single ventricle (86%) and heterotaxy (75%) than for DTGA (28%) or TAPVR (13%). Mortality was 11.1% (2/18) in prenatally diagnosed versus 13.8% (4/29) in postnatally diagnosed neonates (p = 0.86). Prenatal detection was associated with shorter mean hospital stay: 16.8 versus 30.3 days (p = 0.03). Prenatally diagnosed patients had lower preoperative inotropic scores (p = 0.02), less acidosis (pH; p = 0.09), but decreased likelihood of spontaneous labor (p = 0.01), lower gestational age (p = 0.01), and lower birth weight (p = 0.01). Fewer deaths occurred in neonates with prenatal detection of their critical CHD requiring ENCI. However, there was no statistical difference in survival demonstrated for prenatally diagnosed neonates in this small cohort. Prenatal detection did improve preoperative clinical status and shorten hospital length of stay.

G423(P) Antenatal detection of critical congenital heart disease and the need for pulse-oximetry – a retrospective audit

AimThere is developing consensus regarding routine use of pulse-oximetry. Studies have shown that pulse-oximetry screening can substantially reduce the postnatal diagnostic gap in critical congenital heart disease (CHD)1. Aims of...

Critical Congenital Heart Disease-Utility of Routine Screening for Chromosomal and Other Extracardiac Malformations

Objective. Infants with critical congenital heart disease (CHD) can have genetic and other extracardiac malformations, which add to the short- and long-term risk of morbidity and perhaps mortality. We sought to examine our center's practice of screening for extracardiac anomalies and to determine the yield of these tests among specific cardiac diagnostic categories. Design. Retrospective review of infants admitted to the cardiac intensive care unit with a new diagnosis of CHD. Subjects were categorized into six groups: septal defects (SD), conotruncal defects (CTD), single-ventricle physiology (SV), left-sided obstructive lesions (LSO), right-sided obstructive lesions (RSO), and "other" (anomalous pulmonary venous return, Ebstein's anomaly). Screening modalities included genetic testing (karyotype and fluorescent in situ hybridization for 22q11.2 deletion), renal ultrasound (RUS), and head ultrasound (HUS). Results. One hundred forty-one patients were identified. The incidence of cardiac anomalies was: CTD (36%), SD (18%), SV (18%), LSO (14%), RSO (3%), and "other" (8%). Overall 14% had an abnormal karyotype, 5% had a deletion for 22q11.2, 28% had an abnormal RUS and 22% had abnormal HUS. Patients in SD and SV had the highest incidence of abnormal karyotype (36% and 17%); 22q11.2 deletion was present only in CTD and LSO groups (9% and 7%, respectively); abnormal RUS and HUS were seen relatively uniformly in all categories. Premature infants had significantly higher incidence of renal 43% vs. 24%, and intracranial abnormalities 46% vs. 16%. Conclusion. Infants with critical CHD and particularly premature infants have high incidence of genetic and other extracardiac anomalies. Universal screening for these abnormalities with ultrasonographic and genetic testing maybe warranted because early detection could impact short and long-term outcomes.

Evaluation of pulse oximetry screening in Middle Tennessee: cases for consideration before universal screening

Pulse oximetry screening of asymptomatic newborns is suggested as a life-saving procedure for the timely detection of critical congenital heart disease (CHD) in asymptomatic newborns. We evaluated this screening and report cases that demonstrate problems with screening in a non-research setting. An elective state-directed public health screening program was evaluated in Middle Tennessee; 14 564 infants were screened after 24 h of age and before discharge. The screening was performed in a non-research setting by nurses at the local hospitals. A parallel investigation of the methods and timing of diagnosis in Middle Tennessee revealed a surprisingly high incidence of antenatal diagnosis (66%). Using a saturation value of 94% as the defined normal, the positive predictive value was less than 1%, with 112 infants having a false positive case and 1 having a true positive case identified (incidence 1/34 775). The one true positive case was not referred for evaluation. One false-positive case resulted in a costly referral and hospitalization. Antenatal diagnosis when combined with physical examination detected 43 of 44 infants with critical CHD during the year-long evaluation. Before universal screening can be implemented, a system of care must be defined to address the educational and referral issues raised by this report.